Summary about Disease
Uric acid diathesis, more commonly understood through its manifestations like gout or kidney stones, refers to a predisposition to having abnormally high levels of uric acid in the body (hyperuricemia). This elevated uric acid can lead to the formation of urate crystals that deposit in joints, kidneys, and other tissues, causing a range of health issues. It's not a disease in itself, but a metabolic condition that increases the risk of developing diseases such as gout, kidney stones, and, rarely, kidney disease.
Symptoms
Symptoms vary depending on which conditions develop due to uric acid diathesis:
Gout: Sudden, severe pain, redness, and swelling in joints, most often the big toe. Other joints like ankles, knees, and elbows can also be affected. Attacks can last for days or weeks.
Kidney Stones: Severe pain in the side or back, radiating to the lower abdomen and groin. Nausea, vomiting, frequent urination, blood in the urine.
Asymptomatic Hyperuricemia: Many people with high uric acid levels have no symptoms at all.
Causes
Elevated uric acid levels (hyperuricemia) leading to uric acid diathesis can be caused by:
Overproduction of uric acid: The body produces too much uric acid. This can be due to genetic factors, certain medical conditions (e.g., myeloproliferative disorders), or diet high in purines.
Under-excretion of uric acid: The kidneys don't eliminate enough uric acid from the body. This is the more common cause and can be related to kidney disease, certain medications (e.g., diuretics), lead exposure, or genetic factors.
Diet: High intake of purine-rich foods (red meat, organ meats, seafood), fructose-sweetened beverages, and alcohol (especially beer).
Obesity: Being overweight or obese increases uric acid production and decreases its excretion.
Medical conditions: Kidney disease, high blood pressure, diabetes, metabolic syndrome, hypothyroidism.
Medications: Diuretics, aspirin (low dose), some immunosuppressants.
Genetics: Genetic factors can influence both uric acid production and excretion.
Medicine Used
Medications are used to manage the symptoms of gout and kidney stones, and to lower uric acid levels.
For acute gout attacks:
Nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen or naproxen.
Colchicine.
Corticosteroids (oral or injected).
For lowering uric acid levels (preventative):
Allopurinol: Reduces uric acid production.
Febuxostat: Reduces uric acid production (used when allopurinol is not tolerated or ineffective).
Probenecid: Helps the kidneys excrete uric acid.
Pegloticase: Infusion therapy for severe gout refractory to other treatments (converts uric acid to a more soluble form).
For kidney stones:
Pain relievers.
Alpha-blockers (to help pass the stone).
Potassium citrate (to make urine less acidic).
In some cases, procedures to break up or remove the stone may be necessary.
Is Communicable
Uric acid diathesis, gout, and kidney stones are not communicable. They are not caused by infectious agents and cannot be spread from person to person.
Precautions
Precautions focus on managing uric acid levels through lifestyle and dietary changes:
Diet: Limit purine-rich foods (red meat, organ meats, certain seafood). Avoid fructose-sweetened beverages and limit alcohol, especially beer.
Hydration: Drink plenty of water to help flush out uric acid.
Weight management: Lose weight if overweight or obese.
Limit alcohol: especially beer and hard liquor
Medication review: Discuss medications with your doctor to see if any are contributing to high uric acid levels.
Regular exercise: Helps maintain a healthy weight and improves overall health.
Monitor uric acid levels: Get regular blood tests to check uric acid levels, especially if you have risk factors.
Tart cherry extract: Some people find tart cherry extract helpful in reducing gout flares.
How long does an outbreak last?
Gout attack: Without treatment, a gout attack can last from several days to a few weeks. With treatment, the duration can be shortened to a few days.
Kidney stone: The duration of symptoms depends on the size and location of the stone. Small stones may pass within a few days or weeks. Larger stones can take longer or require medical intervention.
How is it diagnosed?
Gout:
Joint fluid analysis: A sample of fluid is taken from the affected joint and examined under a microscope for urate crystals. This is the most definitive test.
Blood test: Measures uric acid levels. However, high uric acid alone doesn't confirm gout, as many people with hyperuricemia don't develop gout.
X-rays: Can show joint damage in chronic gout.
Ultrasound: Can detect urate crystals in joints.
Dual-energy CT scan (DECT): Can identify urate crystal deposits in joints.
Kidney Stones:
Urinalysis: Checks for blood and crystals in the urine.
Blood tests: Assess kidney function and uric acid levels.
Imaging tests: X-rays, CT scans, or ultrasounds are used to visualize the kidneys and urinary tract to identify stones.
Stone analysis: If a stone is passed or removed, it can be analyzed to determine its composition.
Timeline of Symptoms
Asymptomatic hyperuricemia: Can last for years without any noticeable symptoms.
Gout attack: Symptoms usually develop rapidly, reaching peak intensity within 12-24 hours. Pain gradually subsides over days to weeks, even without treatment.
Chronic gout: With repeated attacks, gout can become chronic, leading to persistent joint pain, stiffness, and deformity. Tophi (urate crystal deposits under the skin) may develop.
Kidney stones: Symptoms can appear suddenly and intensely when a stone begins to move through the urinary tract. Symptoms may subside when the stone passes or becomes lodged.
Important Considerations
Long-term management is key: While acute attacks can be treated, the focus should be on managing uric acid levels long-term to prevent future attacks and complications.
Individualized treatment: Treatment plans should be tailored to the individual's specific needs and medical history.
Comorbidities: Address underlying conditions like obesity, high blood pressure, diabetes, and kidney disease, as they can contribute to hyperuricemia and its complications.
Medication adherence: It's important to take medications as prescribed to effectively lower uric acid levels.
Regular monitoring: Periodic blood tests to monitor uric acid levels and kidney function are important for managing the condition.
Lifestyle modifications: Diet and lifestyle changes are essential for preventing and managing gout and kidney stones.